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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

作者信息

García-Cazorla Àngels, Verdura Edgard, Juliá-Palacios Natalia, Anderson Eric N, Goicoechea Leire, Planas-Serra Laura, Tsogtbaatar Enkhtuul, Dsouza Nikita R, Schlüter Agatha, Urreizti Roser, Tarnowski Jessica M, Gavrilova Ralitza H, Ruiz Montserrat, Rodríguez-Palmero Agustí, Fourcade Stéphane, Cogné Benjamin, Besnard Thomas, Vincent Marie, Bézieau Stéphane, Folmes Clifford D, Zimmermann Michael T, Klee Eric W, Pandey Udai Bhan, Artuch Rafael, Cousin Margot A, Pujol Aurora

机构信息

Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain.

Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.

出版信息

Acta Neuropathol. 2020 Dec;140(6):971-975. doi: 10.1007/s00401-020-02223-w. Epub 2020 Oct 5.

DOI:10.1007/s00401-020-02223-w
PMID:33015733
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7665968/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a23/7665968/834f096b133f/401_2020_2223_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a23/7665968/834f096b133f/401_2020_2223_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a23/7665968/834f096b133f/401_2020_2223_Fig1_HTML.jpg

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